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You are consulted to the psychiatric hospital to see a 48-year-old female with schizophrenia who has been under psychiatric care for 2 weeks after ingesting hundreds of pennies over a prolonged period. You are asked to address her new complaints of numbness in her feet and trouble walking. On exam, she had a broad-based gait and a positive Romberg. What could explain these findings?
Neimann-Pick disease occurs due to a mutation of which of the following enzymes?
A 60-year-old female with a past medical history of chronic alcohol use was admitted to the hospital 4 days ago for community-acquired pneumonia. Over the last 48 hours, the patient developed severe encephalopathy and generalized weakness. An axial T2 FLAIR MRI is shown. Which of the following is the most likely diagnosis?
A 42-year-old man with a longstanding history of chronic alcohol abuse was found down unresponsive in a public park. He was intubated in the field and brought emergently to the emergency room where his blood alcohol level was 0.32%. A chest X-ray revealed aspiration pneumonia. He was admitted to the ICU, sedated, started on broad-spectrum antibiotics, and aggressively fluid resuscitated. On the second day of the hospitalization, the sedative was weaned but the patient remained comatose. An MRI was performed to identify a possible cause of his symptoms. What is the most likely diagnosis?
A chronic alcoholic is admitted to the hospital for altered mental status. An MRI is performed and shown below. What symptoms/signs are most likely seen on examination?
A 4-year-old boy is in the hospital for headache and abdominal pain and is being treated by the pediatric service for possible constipation, for which they have given polyethylene glycol. You are consulted due to the new onset of inability to extend his left wrist. On exam, you note a bluish coloration of the gingiva.
A peripheral blood smear is requested and shows microcytic RBCs with basophilic stippling. Anemia in this disease is caused in part by inhibition of which of the following?
A 7-month-old girl with a past medical history of hypotonia, weight loss, and failure to thrive is brought to the clinic by her parents. An MRI was performed and T2 sequence images from this study are shown below. What is the most likely diagnosis?
A 42-year-old man presents to the emergency department with recurrent falls, mild confusion, and visual changes. Physical examination reveals a wide-based gait, nystagmus, and ophthalmoplegia. Deficiency in which of the following is the most likely cause of the patient’s symptoms?
Patients with Krabbe disease have a pathologic accumulation of which of the following?
A 6-month-old previously healthy male is seen in your clinic due to feeding difficulties and weakness for the past 8 days. The mother reports that he has also not had a bowel movement in 3 days. On physical exam, the patient demonstrates a weak cry, severe hypotonia, and hypo-responsiveness. No one else in the family is sick, however, they have been eating homemade molasses for the past 4 weeks. This patient’s condition is caused by a toxin affecting which structure?
A 16-year-old male is seen in the clinic for burning and tingling sensations in his upper hands and feet. Additionally, he is a soccer player and states that he does not sweat during physical activity. On physical exam, he has diffuse red-blue papules in his gluteal region, around his navel and nipples, and on his buccal mucosa. There is no family history of skin lesions. This patient likely has a defect in which protein?
A 58-year-old woman presents with worsening memory loss and a 50-pound weight gain over the past six months. On neurological exam, her Mini-Mental Status Examination (MMSE) yields a score of 21/30. She has intact sensation, normal muscle bulk, tone, and strength, but diffuse hyporeflexia. Which of the following is most likely the diagnosis?
A 21-year-old male with a history of cirrhosis, dysarthria, and personality changes was brought to the emergency room after experiencing a 20-minute episode of right-sided weakness. An MRI was performed to evaluate for a possible stroke. An axial cut of a FLAIR sequence is provided below. What is the likely diagnosis of the patient’s chronic illness?
Which of the following is most likely to be damaged by carbon monoxide toxicity?
A 38-year-old man visiting from India presents to your clinic as a new patient for months of weakness in bilateral ankles to dorsiflexion and plantar flexion. On exam, he has diminished reflexes. He had an EMG done recently, showing axonal neuropathy in the lower extremities. He does not have his medication list with him, but he states he has taken a medication prescribed in India for “a cough” for several months. Which of the following labs would provide the highest yield?